rs7216389
| up to 2.1x asthma risk via the ORMDL3 gene |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 2 | 0.69x lower risk of Childhood Asthma. |
| (C;T) | 1.8 | Normal risk for Childhood Asthma. |
| (T;T) | 2 | 1.5x increased risk for Childhood Asthma. |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 39913696 |
| Gene | GSDMB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs7216389 |
| dbSNP (classic) | rs7216389 |
| ClinGen | rs7216389 |
| ebi | rs7216389 |
| HLI | rs7216389 |
| Exac | rs7216389 |
| Gnomad | rs7216389 |
| Varsome | rs7216389 |
| LitVar | rs7216389 |
| Map | rs7216389 |
| PheGenI | rs7216389 |
| Biobank | rs7216389 |
| 1000 genomes | rs7216389 |
| hgdp | rs7216389 |
| ensembl | rs7216389 |
| geneview | rs7216389 |
| scholar | rs7216389 |
| rs7216389 | |
| pharmgkb | rs7216389 |
| gwascentral | rs7216389 |
| openSNP | rs7216389 |
| 23andMe | rs7216389 |
| SNPshot | rs7216389 |
| SNPdbe | rs7216389 |
| MSV3d | rs7216389 |
| GWAS Ctlg | rs7216389 |
| GMAF | 0.3655 |
| Max Magnitude | 2 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
rs7216389, a SNP in the ORMDL3 gene on chromosome 17q21, was associated with susceptibility to childhood asthma in a study of ~1,000 British patients. The variation appears to be linked to altered levels of the ORMDL3 mRNA, which was shown in a cohort study of ~5,000 British and German patients to be correlated to childhood asthma.[PMID 17611496]
A large study of Scottish asthma patients replicated these results, finding that a single copy of the T allele conferred an odds ratio of 1.50 (CI: 1.24-1.81) and 2 copies conferred an odds ratio of 2.11 (CI: 1.71-2.61), respectively.[PMID 18395550]
| GWAS | |
|---|---|
| SNP | rs7216389 |
| PubMedID | [PMID 17611496] |
| Condition | Asthma |
| Gene | Intergenic |
| Risk Allele | T |
| pValue | 9.00E-011 |
| OR | 1.45 |
| 95% CI | 1.17-1.81 |
[PMID 19029000] Chromosome 17q21 gene variants are associated with asthma and exacerbations but not atopy in early childhood.
[PMID 19133921
] Genetic variation in ORM1-like 3 (ORMDL3) and gasdermin-like (GSDML) and childhood asthma
[PMID 20372189] A sequence variant on 17q21 is associated with age at onset and severity of asthma
[PMID 20503266] Allergy and glioma risk: Test of association by genotype
[PMID 21796154] Effects of a 17q21 chromosome gene variant, tobacco smoke and furred pets on infant wheeze
[PMID 18310477] ORMDL3 gene is associated with asthma in three ethnically diverse populations.
[PMID 18439551] Genetic architecture of transcript-level variation in humans.
[PMID 19175592] Asthma and atopy are associated with chromosome 17q21 markers in Chinese children.
[PMID 19426955] Genome-wide association analysis identifies PDE4D as an asthma-susceptibility gene.
[PMID 19474294] Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.
[PMID 19714205] Genome-wide association study implicates chromosome 9q21.31 as a susceptibility locus for asthma in mexican children.
[PMID 19732864] Allele-specific chromatin remodeling in the ZPBP2/GSDMB/ORMDL3 locus associated with the risk of asthma and autoimmune disease.
[PMID 20187971] Modeling expression quantitative trait loci in data combining ethnic populations.
[PMID 20369022] Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations.
[PMID 20698975] Asthma-susceptibility variants identified using probands in case-control and family-based analyses.
[PMID 21337730] Polymorphisms in GSDMA and GSDMB are associated with asthma susceptibility, atopy and BHR.
[PMID 22472724] Asthma and bronchodilator responsiveness are associated with polymorphic markers of ARG1, CRHR2 and chromosome 17q21.
[PMID 23096927] Single nucleotide polymorphisms in the ORM1-like 3 gene associated with childhood asthma in a Chinese population
[PMID 23157251] Variants in the 17q21 asthma susceptibility locus are associated with allergic rhinitis in the Japanese population
[PMID 22732088] GSDMB/ORMDL3 variants contribute to asthma susceptibility and eosinophil-mediated bronchial hyperresponsiveness.
[PMID 23028483] Genome-wide association studies of asthma in population-based cohorts confirm known and suggested loci and identify an additional association near HLA.
[PMID 25768087] An ADAM33 Polymorphism Associates with Progression of Preschool Wheeze into Childhood Asthma: A Prospective Case-Control Study with Replication in a Birth Cohort Study
[PMID 26886240] Association Between Gasdermin A and Gasdermin B Polymorphisms and Susceptibility to Adult and Childhood Asthma Among Jordanians.
[PMID 28854703] Expression quantitative trait loci (eQTLs) in human placentas suggest developmental origins of complex diseases.
[PMID 29296089] Elevated fractional exhaled nitric oxide and blood eosinophil counts are associated with a 17q21 asthma risk allele in adult subjects.
